1. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Issue 1 (22nd October 2022) Authors: Maia, Nuno; Ibarluzea, Nekane; Misra‐Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski‐Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa‐Aranz... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016) Authors: Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ... Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗